Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.

Abstract:

:Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome. All 23 coding exons and flanking introns of the VPS33B gene were amplified and sequenced using peripheral lymphocyte genomic DNA of the patient and her parents. Genetic testing revealed two novel mutations (c.1033delA and c.1567C>T) in the VPS33B gene. The patient is a compound heterozygote and her parents were heterozygous for each of the mutations.

journal_name

World J Gastroenterol

authors

Li LT,Zhao J,Chen R,Wang JS

doi

10.3748/wjg.v20.i1.326

subject

Has Abstract

pub_date

2014-01-07 00:00:00

pages

326-9

issue

1

eissn

1007-9327

issn

2219-2840

journal_volume

20

pub_type

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